Variant report

Variant	rs16842337
Chromosome Location	chr4:8470240-8470241
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZC3H11A	chr4:8470058-8470815	K562	blood:	n/a	n/a
2	CTCF	chr4:8470180-8470330	BE2_C	brain:	n/a	n/a
3	CTCF	chr4:8470140-8470290	AG09319	gingival:	n/a	n/a
4	RAD21	chr4:8470237-8471030	SK-N-SH	brain:	n/a	chr4:8470656-8470675
5	SMC3	chr4:8470201-8471202	SK-N-SH	brain:	n/a	chr4:8470657-8470671 chr4:8471032-8471040
6	MAZ	chr4:8470235-8470929	K562	blood:	n/a	n/a
7	CTCF	chr4:8470207-8471080	HCT-116	colon:	n/a	chr4:8470658-8470671 chr4:8470655-8470673 chr4:8470657-8470678
8	CTCF	chr4:8470180-8470330	HMEC	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8468812..8470313-chr4:8589998..8592913,2	K562	blood:
2	chr4:8451706..8454826-chr4:8468396..8471846,3	K562	blood:
3	chr4:8468552..8470312-chr4:8591413..8592935,2	K562	blood:
4	chr4:8470225..8471528-chr4:8595848..8597093,11	K562	blood:
5	chr4:8469952..8472230-chr4:8539162..8541122,2	MCF-7	breast:
6	chr4:8470159..8471594-chr4:8587070..8589399,12	MCF-7	breast:
7	chr4:8470170..8471110-chr4:8595421..8596838,7	MCF-7	breast:
8	chr4:8470194..8471378-chr4:8548265..8549392,10	MCF-7	breast:
9	chr4:8469176..8470794-chr4:8477101..8479273,2	MCF-7	breast:
10	chr4:8441944..8444438-chr4:8468508..8471362,2	K562	blood:

Variant related genes	Relation type
TRMT44	TF binding region
ENSG00000087008	Chromatin interaction
ENSG00000155275	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12500186	0.89[AFR][1000 genomes]
rs12506703	0.93[AFR][1000 genomes]
rs12511591	0.89[AFR][1000 genomes]
rs16842409	1.00[AMR][1000 genomes]
rs16842423	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16842427	1.00[AMR][1000 genomes]
rs16842443	1.00[AMR][1000 genomes]
rs4557247	1.00[AMR][1000 genomes]
rs6813671	0.89[AFR][1000 genomes]
rs6814866	0.89[AFR][1000 genomes]
rs6816060	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6816094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6817579	0.93[AFR][1000 genomes]
rs6846116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73213406	0.93[AFR][1000 genomes]
rs73213409	0.93[AFR][1000 genomes]
rs73213426	0.89[AFR][1000 genomes]
rs73223242	0.89[AFR][1000 genomes]
rs73223246	0.89[AFR][1000 genomes]
rs73223250	0.93[AFR][1000 genomes]
rs73223256	0.93[AFR][1000 genomes]
rs73223257	0.93[AFR][1000 genomes]
rs73223259	0.86[AFR][1000 genomes]
rs73223263	0.86[AFR][1000 genomes]
rs73223264	0.89[AFR][1000 genomes]
rs73223266	0.89[AFR][1000 genomes]
rs73223271	0.89[AFR][1000 genomes]
rs73223275	0.89[AFR][1000 genomes]
rs73223282	0.93[AFR][1000 genomes]
rs9761200	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv964737	chr4:8467874-8473530	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8446400-8473800	Strong transcription	Fetal Stomach	stomach
2	chr4:8446600-8473400	Strong transcription	Dnd41	blood
3	chr4:8446600-8474000	Strong transcription	Fetal Muscle Leg	muscle
4	chr4:8447000-8474400	Strong transcription	Fetal Brain Female	brain
5	chr4:8447000-8475200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:8447000-8480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:8447200-8473000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:8447200-8480200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:8447400-8474000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:8447400-8482200	Strong transcription	Primary T cells from cord blood	blood
11	chr4:8447600-8472200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:8447600-8473400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr4:8447800-8472800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:8451200-8473600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:8457200-8470600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr4:8457800-8470800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:8458200-8472000	Weak transcription	Fetal Heart	heart
18	chr4:8459400-8474000	Strong transcription	Fetal Intestine Small	intestine
19	chr4:8459800-8478800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr4:8460200-8470800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:8462400-8472800	Strong transcription	Liver	Liver
22	chr4:8463000-8470600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:8463000-8471600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr4:8463400-8473800	Weak transcription	Fetal Kidney	kidney
25	chr4:8463800-8478800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr4:8464200-8471200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:8464400-8471200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr4:8464600-8473200	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr4:8464600-8474000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:8464800-8472000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr4:8464800-8472000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:8464800-8473400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:8464800-8473600	Strong transcription	Brain Angular Gyrus	brain
34	chr4:8465000-8471400	Strong transcription	Left Ventricle	heart
35	chr4:8465200-8470400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:8465200-8470600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:8465200-8470800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:8465200-8471400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr4:8465200-8471600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:8465200-8471800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr4:8465200-8472200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:8465200-8472200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:8465200-8472200	Strong transcription	Brain Cingulate Gyrus	brain
44	chr4:8465200-8472200	Strong transcription	Brain Hippocampus Middle	brain
45	chr4:8465200-8472200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr4:8465200-8472200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:8465200-8472200	Strong transcription	Osteobl	bone
48	chr4:8465200-8472800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:8465200-8472800	Strong transcription	Aorta	Aorta
50	chr4:8465200-8473600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links